Complete datasets of genetic variants are key to biodiversity genomic studies. Long-read
sequencing technologies allow the routine assembly of highly contiguous, haplotype …

It has been over a decade since the first publication of a method dedicated entirely to
map** long-reads. The distinctive characteristics of long reads resulted in methods …

Pangenome graphs can represent all variation between multiple reference genomes, but
current approaches to build them exclude complex sequences or are based upon a single …

Abstract Here the Human Pangenome Reference Consortium presents a first draft of the
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …

The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share
large homologous regions, including ribosomal DNA repeats and extended segmental …

Abstract Background Transposable Elements (TEs) are segments of DNA, typically a few
hundred base pairs up to several tens of thousands bases long, that have the ability to …

Motivation Sequence alignment is a memory bound computation whose performance in
modern systems is limited by the memory bandwidth bottleneck. Processing-in-memory …

Motivation Sequence alignment has been at the core of computational biology for half a
century. Still, it is an open problem to design a practical algorithm for exact alignment of a …

In the last years, advances in genome sequencing technologies have enabled the
proliferation of genomic applications that guide personalized medicine. These applications …

Motivation Recent advances in sequencing technologies have stressed the critical role of
sequence analysis algorithms and tools in genomics and healthcare research. In particular …